UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51751514T>A | CA384880056 | SCN8A | c.2291T>A (p.Val764Asp) c.138T>A c.295T>A n.2419T>A c.2324T>A (p.Val775Asp) | |
| 12 | g.51751514T>C | CA384880054 | SCN8A | c.2291T>C (p.Val764Ala) c.138T>C c.295T>C n.2419T>C c.2324T>C (p.Val775Ala) | ClinVar |
| 12 | g.51751514T>G | CA384880055 | SCN8A | c.2291T>G (p.Val764Gly) c.138T>G c.295T>G n.2419T>G c.2324T>G (p.Val775Gly) | |
| 12 | g.51751515C>A | CA480061148 | SCN8A | c.2292C>A (p.Val764=) c.139C>A c.296C>A n.2420C>A c.2325C>A (p.Val775=) | |
| 12 | g.51751515C= | CA2036196302 | SCN8A | c.2292C= (p.Val764=) c.139C= c.296C= n.2420C= c.2325C= (p.Val775=) | |
| 12 | g.51751515C>G | CA480061149 | SCN8A | c.2292C>G (p.Val764=) c.139C>G c.296C>G n.2420C>G c.2325C>G (p.Val775=) | |
| 12 | g.51751515C>T | CA6571455 | SCN8A | c.2292C>T (p.Val764=) c.139C>T c.296C>T n.2420C>T c.2325C>T (p.Val775=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751516C>A | CA384880057 | SCN8A | c.2293C>A (p.Leu765Met) c.140C>A c.297C>A n.2421C>A c.2326C>A (p.Leu776Met) | |
| 12 | g.51751516C>G | CA384880058 | SCN8A | c.2293C>G (p.Leu765Val) c.140C>G c.297C>G n.2421C>G c.2326C>G (p.Leu776Val) | |
| 12 | g.51751516C>T | CA480061150 | SCN8A | c.2293C>T (p.Leu765=) c.140C>T c.297C>T n.2421C>T c.2326C>T (p.Leu776=) | |
| 12 | g.51751517T>A | CA384880059 | SCN8A | c.2294T>A (p.Leu765Gln) c.141T>A c.298T>A n.2422T>A c.2327T>A (p.Leu776Gln) | gnomAD v4 |
| 12 | g.51751517T>C | CA384880060 | SCN8A | c.2294T>C (p.Leu765Pro) c.141T>C c.298T>C n.2422T>C c.2327T>C (p.Leu776Pro) | |
| 12 | g.51751517T>G | CA384880061 | SCN8A | c.2294T>G (p.Leu765Arg) c.141T>G c.298T>G n.2422T>G c.2327T>G (p.Leu776Arg) | |
| 12 | g.51751518G>A | CA480061154 | SCN8A | c.2295G>A (p.Leu765=) c.142G>A c.299G>A n.2423G>A c.2328G>A (p.Leu776=) | |
| 12 | g.51751518G>C | CA480061155 | SCN8A | c.2295G>C (p.Leu765=) c.142G>C c.299G>C n.2423G>C c.2328G>C (p.Leu776=) | |
| 12 | g.51751518G>T | CA480061156 | SCN8A | c.2295G>T (p.Leu765=) c.142G>T c.299G>T n.2423G>T c.2328G>T (p.Leu776=) | |
| 12 | g.51751519A>C | CA384880062 | SCN8A | c.2296A>C (p.Asn766His) c.143A>C c.300A>C n.2424A>C c.2329A>C (p.Asn777His) | |
| 12 | g.51751519A>G | CA384880063 | SCN8A | c.2296A>G (p.Asn766Asp) c.143A>G c.300A>G n.2424A>G c.2329A>G (p.Asn777Asp) | |
| 12 | g.51751519A>T | CA384880064 | SCN8A | c.2296A>T (p.Asn766Tyr) c.143A>T c.300A>T n.2424A>T c.2329A>T (p.Asn777Tyr) | |
| 12 | g.51751520A>C | CA384880065 | SCN8A | c.2297A>C (p.Asn766Thr) c.144A>C c.301A>C n.2425A>C c.2330A>C (p.Asn777Thr) | |
| 12 | g.51751520A>G | CA384880066 | SCN8A | c.2297A>G (p.Asn766Ser) c.144A>G c.301A>G n.2425A>G c.2330A>G (p.Asn777Ser) | |
| 12 | g.51751520A>T | CA384880067 | SCN8A | c.2297A>T (p.Asn766Ile) c.144A>T c.301A>T n.2425A>T c.2330A>T (p.Asn777Ile) | |
| 12 | g.51751521T>A | CA384880069 | SCN8A | c.2298T>A (p.Asn766Lys) c.145T>A c.302T>A n.2426T>A c.2331T>A (p.Asn777Lys) | |
| 12 | g.51751521T>C | CA480061158 | SCN8A | c.2298T>C (p.Asn766=) c.145T>C c.302T>C n.2426T>C c.2331T>C (p.Asn777=) | |
| 12 | g.51751521T>G | CA384880068 | SCN8A | c.2298T>G (p.Asn766Lys) c.145T>G c.302T>G n.2426T>G c.2331T>G (p.Asn777Lys) | |
| 12 | g.51751522A>C | CA384880070 | SCN8A | c.2299A>C (p.Thr767Pro) c.146A>C c.303A>C n.2427A>C c.2332A>C (p.Thr778Pro) | |
| 12 | g.51751522A>G | CA384880071 | SCN8A | c.2299A>G (p.Thr767Ala) c.146A>G c.303A>G n.2427A>G c.2332A>G (p.Thr778Ala) | |
| 12 | g.51751522A>T | CA384880072 | SCN8A | c.2299A>T (p.Thr767Ser) c.146A>T c.303A>T n.2427A>T c.2332A>T (p.Thr778Ser) | |
| 12 | g.51751523C>A | CA384880073 | SCN8A | c.2300C>A (p.Thr767Lys) c.147C>A c.304C>A n.2428C>A c.2333C>A (p.Thr778Lys) | |
| 12 | g.51751523C= | CA2036196305 | SCN8A | c.2300C= (p.Thr767=) c.147C= c.304C= n.2428C= c.2333C= (p.Thr778=) | |
| 12 | g.51751523C>G | CA384880074 | SCN8A | c.2300C>G (p.Thr767Arg) c.147C>G c.304C>G n.2428C>G c.2333C>G (p.Thr778Arg) | |
| 12 | g.51751523C>T | CA204472 | SCN8A | c.2300C>T (p.Thr767Ile) c.147C>T c.304C>T n.2428C>T c.2333C>T (p.Thr778Ile) | ClinVar dbSNP |
| 12 | g.51751524A= | CA2036196311 | SCN8A | c.2301A= (p.Thr767=) c.148A= c.305A= n.2429A= c.2334A= (p.Thr778=) | |
| 12 | g.51751524A>C | CA480061160 | SCN8A | c.2301A>C (p.Thr767=) c.148A>C c.305A>C n.2429A>C c.2334A>C (p.Thr778=) | ClinVar dbSNP |
| 12 | g.51751524A>G | CA480061161 | SCN8A | c.2301A>G (p.Thr767=) c.148A>G c.305A>G n.2429A>G c.2334A>G (p.Thr778=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751524A>T | CA480061162 | SCN8A | c.2301A>T (p.Thr767=) c.148A>T c.305A>T n.2429A>T c.2334A>T (p.Thr778=) | |
| 12 | g.51751525C>A | CA384880076 | SCN8A | c.2302C>A (p.Leu768Met) c.149C>A c.306C>A n.2430C>A c.2335C>A (p.Leu779Met) | |
| 12 | g.51751525C= | CA2036196313 | SCN8A | c.2302C= (p.Leu768=) c.149C= c.306C= n.2430C= c.2335C= (p.Leu779=) | |
| 12 | g.51751525C>G | CA384880075 | SCN8A | c.2302C>G (p.Leu768Val) c.149C>G c.306C>G n.2430C>G c.2335C>G (p.Leu779Val) | |
| 12 | g.51751525C>T | CA480061163 | SCN8A | c.2302C>T (p.Leu768=) c.149C>T c.306C>T n.2430C>T c.2335C>T (p.Leu779=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51751526T>A | CA384880077 | SCN8A | c.2303T>A (p.Leu768Gln) c.150T>A c.307T>A n.2431T>A c.2336T>A (p.Leu779Gln) | |
| 12 | g.51751526T>C | CA384880078 | SCN8A | c.2303T>C (p.Leu768Pro) c.150T>C c.307T>C n.2431T>C c.2336T>C (p.Leu779Pro) | |
| 12 | g.51751526T>G | CA384880079 | SCN8A | c.2303T>G (p.Leu768Arg) c.150T>G c.307T>G n.2431T>G c.2336T>G (p.Leu779Arg) | |
| 12 | g.51751527G>A | CA480061164 | SCN8A | c.2304G>A (p.Leu768=) c.151G>A c.308G>A n.2432G>A c.2337G>A (p.Leu779=) | gnomAD v4 |
| 12 | g.51751527G>C | CA480061166 | SCN8A | c.2304G>C (p.Leu768=) c.151G>C c.308G>C n.2432G>C c.2337G>C (p.Leu779=) | |
| 12 | g.51751527G>T | CA480061165 | SCN8A | c.2304G>T (p.Leu768=) c.151G>T c.308G>T n.2432G>T c.2337G>T (p.Leu779=) | |
| 12 | g.51751528T>A | CA384880080 | SCN8A | c.2305T>A (p.Phe769Ile) c.152T>A c.309T>A n.2433T>A c.2338T>A (p.Phe780Ile) | |
| 12 | g.51751528T>C | CA384880081 | SCN8A | c.2305T>C (p.Phe769Leu) c.152T>C c.309T>C n.2433T>C c.2338T>C (p.Phe780Leu) | |
| 12 | g.51751528T>G | CA384880082 | SCN8A | c.2305T>G (p.Phe769Val) c.152T>G c.309T>G n.2433T>G c.2338T>G (p.Phe780Val) | |
| 12 | g.51751529T>A | CA384880083 | SCN8A | c.2306T>A (p.Phe769Tyr) c.153T>A c.310T>A n.2434T>A c.2339T>A (p.Phe780Tyr) |